ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.733+78A>G

dbSNP: rs77452319
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001527567 SCV001738658 likely benign Infantile GM1 gangliosidosis 2021-06-15 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527568 SCV001738659 likely benign Mucopolysaccharidosis, MPS-IV-B 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001615231 SCV001838237 benign not provided 2019-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615231 SCV005258427 likely benign not provided criteria provided, single submitter not provided

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